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I was diagnosed with hemochromatosis 3 years ago in 2006, and I only have one hemochromatosis gene -- H63D. Most doctors believe that people who only have one hemochromatosis gene are not at risk for developing hemochromatosis or iron overload. Because of that misconception, none of the doctors I saw over a period of 13 years were concerned that my blood tests and a liver biopsy indicated that I was accumulating and storing abnormal amounts of iron. Here's how my test results progressed:

Serum iron 267 (abnormally high)
Transferrin saturation 88 (abnormally high)
Ferritin 94 (normal)

1996 Liver Biopsy:
Iron in Liver Tissue 2087 (abnormally high)
Hepatic Iron Index 0.8 (normal)

Serum iron 277 (abnormally high)
Transferrin saturation 93 (abnormally high)
Ferritin 287 (normal)

Serum iron 255 (abnormally high)
Transferrin saturation 89 (abnormally high)
Ferritin 1494 (abnormally high)

2006 Liver Biopsy:
Iron in Liver Tissue 6156 (abnormally high)
Hepatic Iron Index 2.0 (abnormally high)

I strongly suggest that you request copies of your test results so that you can monitor any abnormalities. When my ferritin was tested at 1494, my primary care doctor didn't even tell me about it, and I never would have known my ferritin was high if I had not requested a copy of my lab tests. When I told my doctor I was alarmed about my high ferritin, she said, "There's nothing to be concerned about." I then went to a specialist (a gastroenterologist) who diagnosed me with hemochromatosis 4 months after my primary care doctor told me there was nothing to be concerned about.

The gastroenterologist ordered a liver biopsy, and then prescribed phlebotomy therapy to remove the excess iron from my body. After phlebotomy therapy, all of my blood tests returned to normal values, but I don't know if the iron was successfully removed from my liver.

However, getting rid of the iron with phlebotomies doesn't undo the damage already done by hemochromatosis. I have liver damage, but no tests have been done to see if any other organs were damaged by the iron. I have arthritis, especially at the base of my thumbs (which is a common site for arthritis in patients with hemochromatosis). I had premature menopause when I was 32 years old, which is known as hypogonadism and is another complication of hemochromatosis.

Hi Donna - wow, you have done some research!! The thing i noticed was that your ferretin was SO high which would indicate iron overload, yet robine's ferretin is low at only 28 yet you both have one gene found for the hemochromatosis. I find that unusual.

Robine - in your case i'm still curious about your high B12. I hope you get some answers to that as i can't find too much apart from what i posted on your thread on the thyroid board.

Donna - thyroid issues will most often flare up during major hormonal changes, such as teens, pregnancy and menopause, so it's not unusual that you should have had a goitre/thyroid issues way back then.

If a doctor had correctly assessed your situation back then and started you off on medication there is a very good likelyhood that your thyroid could have been saved and not be removed.

It's a shame doctors base their findings on usually TSH alone, rather than looking at the entire thyroid panel. This is how i went undiagnosed for 8 years, even though i had sky high thyroid antibodies. I had Hashimoto's back in 2000, yet was refused treatment by an Endo simply due to my TSH not being off the scale. I'm just lucky that my thyroid destruction appears to be a slow moving one.
Thanks to all for the detailed information. It gives me lots to think about and question before I see the hematologist on 2-27. I also looked up some of my old labs of which there are many. I did have a hysterectomy in 1986. Most of my life I was anemic as labs from 1990 show, even after the above surgery. Anemia most likely due to celiac undiagnosed at this time.

RBC 4.5 (range 4.8-10.8)
Hematocrit 33.9 (range 37-47)
Hemoglobin 11.6 (range 12-16)
TSH (0.7) low (range 3.4-5.0) just interesting as I hadn't been diagnosed with Hasimoto's at this time. Range for TSH has changed since then.

In 2005
Ferritin 176 high (range 13-150)
TIBC 254 low (range 260-470)
Folate high says greater than 20 (range 2-20) No number given
Iron 75 (range 30-160)
Hemoglobin 13.6 (range 12-16)
Hematocrit 39.8 (range 36-48)
Vitamin B12 1129 high (range 240-900)
TSH 2.0 (range .27-4.2) still not diagnosed with Hashimoto's
Platelet Count 142 low (range 150-440) not yet diagnosed with ITP

Iron 117 (range 35-150)
UIBC 100 low (range 126-382)
TIBC 216 low (range 250-450)
Transferrin Sat 54 (range 15-60)
Hematocrit 40 (range 36-46)
Hemoglobin 13.2 (range 12-16)
Ferritin 29 (range 5-204)

FE (Iron) 155 high (range 35-150)
UIBC 48 low (range 126-382)
TIBC 202 low (range 250-450)
Transferrin Sat 77 high (range 15-60)
Hematocrit 41 (range 36-46)
Hemoglobin 13.7 (range 12-16)
Ferritin 29 (range 5-204)
Platelets 128 low (range 150-400)
TSH 0.35 (range 0.3.5-4.94) Endo MD wants TSH below 1.0

5 years ago celiac was diagnosed along with osteoporosis, 3 years ago hasimoto's diagnosed, 2 years ago addison's diagnosed, 1 year ago ITP diagnosed.
I think the malabsorption associated with celiac has probably affected iron absorption for a long time and has now improved considerably.

Now that absorption is much better my iron is creeping up, UIBC and TIBC both going down. Ferritin was up 4 years ago, and has been creeping down. Perhaps lower Ferritin is associated with hashi as suggested.

All my minerals and vitamins were far below normal 5 years ago due to celiac. I have been on some prescribed vitamins and intravenous infusions to bring things up. No iron given at all. No B12 in infusion either. B12 in vitamins is 600 mcg daily. Docs are not worried about B12 elevation due to supplements. I do take prescription pancreatic enzymes to improve absorption so that may influence things as well. When I see the nutrition doc in March I will see if he wants to check Vitamin A levels again.

Audrey- Thanks for the information on the thyroid board. I didn't think about the anemia board as my iron, etc was on the high end except for ferritin.

Donna: I did check my vitamins and there is more than the usual of vitamin A - 3,200IU in one, 3,700 IU in the other. I think 4000IU is the daily recommendation normally. Since they are multi vitamins and eye vitamins (due to extreme night blindness and some eye swelling of cornea and macular with extremely dry eyes when malabsorption was at its worst and preventing me from driving in the dark and on bright or rainy days for about 6 months), I will ask my nutrition doc about dropping the dose to half. All the eye problems have resolved with the vitamins so don't want to stop vitamins all together. I could never tolerate vitamins before my doc recommended the current vitamin supplements and B12 is included with all the other things I need. I also drink carrot juice twice a day so will try once a day. I'm sure you are right that the orange color in palms and bottom of feet is from increased vitamin A. Thank you.

Donna: Did the MRI of the liver include a scan with dye or does the iron show up because the MRI picks it up as a metal type substance?

FLFlowergirl: My hematologist wants the MRI to check on iron damage to the liver. I had an MRi of abdomen 4 years ago and liver was normal at that time. She and my endocrinologist both keep wondering why after being on a very strict gluten free diet my other organs are being damaged so have ruled out all the other autoimmune diseases with a rheumatologist in Boston (ANA is also mildly elevated). She mentioned phlebotomy if numbers continue to be up even if MRI is negative, to prevent damage to liver.

FLFlowergirl, what is the US your DH had? What does the gastroenterologist do to check organs? Also which tests did your children have to screen for hemochromatosis? My daughters both need to be tested but would like to tell them which tests to have-probably gene tests and all the iron tests. At this point they are both anemic.

Thanks again to all for taking the time to respond in detail to my questions. It is really helping me put some of the pieces together in this ongoing puzzle.
Enjoy the day!

Robine - I think your orange palms might be from the carrot juice because it contains beta carotene. The Vitamin A in your multivitamin supplements probably is not beta carotene, so it wouldn't cause orange palms, and therefore you wouldn't need to reduce the supplemental Vitamin A that you're taking. Just my opinion.

Vitamin C increases intestinal absorption of iron. If by chance you're taking megadoses of Vitamin C, it might be advisable not to do that.

I didn't have an MRI to detect iron in my liver, so I don't know if they use contrast dye. Some doctors still think that liver biopsy is the best procedure to do, and I happened to have one of those doctors.

This is from a very interesting article about hemochromatosis, and it talks about liver biopsies and MRIs to detect iron in the liver:

"Once viewed as the standard procedure for diagnosing hemochromatosis, liver biopsy is increasingly being seen as unsuitable for this purpose because its results are frequently normal at early stages of the disease. Heavily iron-laden liver specimens taken at biopsy certainly provide meaningful information for diagnosing iron overload disease; however, as the pathophysiology of hemochromatosis shows, the earlier a biopsy is done in the disease, the more likely are the results to be normal or equivocal. For instance, half of liver biopsies done in presymptomatic cases have shown normal results. Even in symptomatic cases, about 8% of liver biopsies do not produce diagnostic results (ie, grade 3 or 4 when Perls' stain is used). Thus, liver biopsy results and their derivative measures (eg, the Hepatic Iron Index) are often misleadingly normal at precisely the stages of hemochromatosis where therapeutic opportunity is greatest.

"The same logic applies to use of magnetic resonance imaging (MRI) and magnetic susceptometry (SQUID) to evaluate liver iron stores because these techniques also show normal stores of iron in the liver early in the disease. No matter how sophisticated the approach, any diagnostic technique focused on liver iron stores is limited to diagnosis of advanced cases only; worse yet, early cases will predictably be missed. On the other hand, because hepatoma is a potential outcome of untreated hemochromatosis, those who favor liver biopsy argue that it has a role in demonstrating cirrhosis with its implications for development of hepatocellular carcinoma. Others see little purpose in attempting this prediction."

Source: [url][/url]

It sounds like you have a good hematologist since she mentioned having you get phlebotomies even if your MRI is negative.


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